Incidental Mutation 'R6156:Wdhd1'
| ID |
489611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdhd1
|
| Ensembl Gene |
ENSMUSG00000037572 |
| Gene Name |
WD repeat and HMG-box DNA binding protein 1 |
| Synonyms |
AND-1, D630024B06Rik |
| MMRRC Submission |
044303-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6156 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 47505653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 273
(G273D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111790]
[ENSMUST00000111791]
[ENSMUST00000111792]
[ENSMUST00000187531]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111790
AA Change: G273D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107420
Gene: ENSMUSG00000037572
AA Change: G273D
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
8.62e-4 |
SMART |
|
WD40
|
83 |
122 |
8.91e-1 |
SMART |
|
WD40
|
125 |
164 |
1.67e-10 |
SMART |
|
WD40
|
217 |
258 |
6.19e-1 |
SMART |
|
WD40
|
261 |
301 |
5.11e1 |
SMART |
|
low complexity region
|
353 |
363 |
N/A |
INTRINSIC |
|
Pfam:DUF3639
|
525 |
551 |
2.4e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111791
AA Change: G273D
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: G273D
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
8.62e-4 |
SMART |
|
WD40
|
83 |
122 |
8.91e-1 |
SMART |
|
WD40
|
125 |
164 |
1.67e-10 |
SMART |
|
WD40
|
217 |
258 |
6.19e-1 |
SMART |
|
WD40
|
261 |
301 |
5.11e1 |
SMART |
|
low complexity region
|
353 |
363 |
N/A |
INTRINSIC |
|
Pfam:Mcl1_mid
|
424 |
708 |
1.6e-103 |
PFAM |
|
coiled coil region
|
802 |
834 |
N/A |
INTRINSIC |
|
HMG
|
1003 |
1073 |
2.64e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111792
AA Change: G273D
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: G273D
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
8.62e-4 |
SMART |
|
WD40
|
83 |
122 |
8.91e-1 |
SMART |
|
WD40
|
125 |
164 |
1.67e-10 |
SMART |
|
WD40
|
217 |
258 |
6.19e-1 |
SMART |
|
WD40
|
261 |
301 |
5.11e1 |
SMART |
|
low complexity region
|
316 |
326 |
N/A |
INTRINSIC |
|
Pfam:DUF3639
|
488 |
514 |
7.1e-13 |
PFAM |
|
coiled coil region
|
765 |
797 |
N/A |
INTRINSIC |
|
HMG
|
966 |
1036 |
2.64e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139124
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187531
AA Change: G273D
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: G273D
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
8.62e-4 |
SMART |
|
WD40
|
83 |
122 |
8.91e-1 |
SMART |
|
WD40
|
125 |
164 |
1.67e-10 |
SMART |
|
WD40
|
217 |
258 |
6.19e-1 |
SMART |
|
WD40
|
261 |
301 |
5.11e1 |
SMART |
|
low complexity region
|
353 |
363 |
N/A |
INTRINSIC |
|
Pfam:DUF3639
|
525 |
551 |
3e-13 |
PFAM |
|
coiled coil region
|
802 |
834 |
N/A |
INTRINSIC |
|
HMG
|
1003 |
1073 |
2.64e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.3542 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (68/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
G |
15: 64,689,488 (GRCm39) |
|
probably null |
Het |
| Ank2 |
T |
C |
3: 126,737,886 (GRCm39) |
D2579G |
probably damaging |
Het |
| Atp6v1b1 |
G |
C |
6: 83,735,115 (GRCm39) |
G423R |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,191,801 (GRCm39) |
N644S |
probably benign |
Het |
| Bhmt1b |
C |
A |
18: 87,775,231 (GRCm39) |
Y251* |
probably null |
Het |
| Capsl |
T |
G |
15: 9,465,920 (GRCm39) |
M132R |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,836,295 (GRCm39) |
Y797H |
probably benign |
Het |
| Cimip4 |
T |
C |
15: 78,263,013 (GRCm39) |
T214A |
probably damaging |
Het |
| Clec2e |
T |
A |
6: 129,072,061 (GRCm39) |
D106V |
possibly damaging |
Het |
| Col6a2 |
C |
T |
10: 76,440,004 (GRCm39) |
V634I |
possibly damaging |
Het |
| Dis3 |
T |
C |
14: 99,336,215 (GRCm39) |
E97G |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,939,281 (GRCm39) |
|
probably null |
Het |
| Dock2 |
C |
A |
11: 34,197,789 (GRCm39) |
V1484F |
possibly damaging |
Het |
| Ephb2 |
T |
A |
4: 136,388,816 (GRCm39) |
M593L |
probably benign |
Het |
| Fcgrt |
T |
C |
7: 44,751,484 (GRCm39) |
T125A |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,359,319 (GRCm39) |
I98T |
probably benign |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Gfod1 |
T |
C |
13: 43,354,514 (GRCm39) |
S154G |
possibly damaging |
Het |
| Ggt5 |
C |
T |
10: 75,445,160 (GRCm39) |
T389I |
probably damaging |
Het |
| Got2 |
A |
G |
8: 96,598,896 (GRCm39) |
F169L |
probably benign |
Het |
| Gse1 |
A |
G |
8: 121,215,866 (GRCm39) |
K5E |
possibly damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,437 (GRCm39) |
I417T |
possibly damaging |
Het |
| Igkv4-91 |
G |
T |
6: 68,745,607 (GRCm39) |
T97K |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,489,608 (GRCm39) |
Y458H |
possibly damaging |
Het |
| Impg1 |
A |
T |
9: 80,230,106 (GRCm39) |
C740S |
probably damaging |
Het |
| Itgb1 |
C |
G |
8: 129,458,535 (GRCm39) |
T788R |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,477,907 (GRCm39) |
V143A |
probably damaging |
Het |
| Ltbp4 |
G |
T |
7: 27,029,587 (GRCm39) |
T136K |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,366,073 (GRCm39) |
I1331T |
probably benign |
Het |
| Mmp11 |
G |
A |
10: 75,762,325 (GRCm39) |
A336V |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,071,879 (GRCm39) |
I536F |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,618 (GRCm39) |
M826V |
probably benign |
Het |
| Naca |
T |
C |
10: 127,875,160 (GRCm39) |
|
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 57,002,364 (GRCm39) |
Y30H |
probably damaging |
Het |
| Or12j4 |
A |
G |
7: 140,046,758 (GRCm39) |
T215A |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,797,447 (GRCm39) |
Y290* |
probably null |
Het |
| Or2n1d |
T |
A |
17: 38,646,064 (GRCm39) |
N5K |
probably damaging |
Het |
| Or4a67 |
T |
A |
2: 88,597,934 (GRCm39) |
I242L |
probably benign |
Het |
| Or4f14d |
A |
T |
2: 111,960,445 (GRCm39) |
L237Q |
probably damaging |
Het |
| Or4k42 |
A |
T |
2: 111,320,095 (GRCm39) |
M136K |
probably damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,484 (GRCm39) |
V173A |
possibly damaging |
Het |
| Or8g22 |
T |
A |
9: 38,958,671 (GRCm39) |
M15L |
possibly damaging |
Het |
| Paqr3 |
A |
C |
5: 97,256,128 (GRCm39) |
L82R |
probably damaging |
Het |
| Pex6 |
C |
T |
17: 47,031,567 (GRCm39) |
P456S |
probably benign |
Het |
| Pih1d2 |
A |
T |
9: 50,532,452 (GRCm39) |
K186I |
possibly damaging |
Het |
| Plekhh3 |
A |
G |
11: 101,061,013 (GRCm39) |
|
probably benign |
Het |
| Ptpn23 |
C |
A |
9: 110,216,849 (GRCm39) |
|
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,812,142 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
T |
A |
17: 26,429,439 (GRCm39) |
Y403* |
probably null |
Het |
| Scn10a |
T |
C |
9: 119,464,649 (GRCm39) |
N984D |
probably benign |
Het |
| Snx14 |
C |
T |
9: 88,289,392 (GRCm39) |
A287T |
possibly damaging |
Het |
| Stx3 |
T |
C |
19: 11,780,874 (GRCm39) |
D33G |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,227,494 (GRCm39) |
K1393R |
probably damaging |
Het |
| Tas2r129 |
T |
C |
6: 132,928,455 (GRCm39) |
S131P |
probably benign |
Het |
| Tbx15 |
G |
T |
3: 99,220,431 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
G |
17: 84,700,795 (GRCm39) |
V1237A |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,888,589 (GRCm39) |
Y1735H |
probably damaging |
Het |
| Ttc22 |
A |
G |
4: 106,495,780 (GRCm39) |
K378R |
probably benign |
Het |
| Tubg2 |
A |
G |
11: 101,051,635 (GRCm39) |
K287E |
possibly damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,310,762 (GRCm39) |
I348T |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,651,409 (GRCm39) |
I1585F |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,261,909 (GRCm39) |
Y407C |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,692,447 (GRCm39) |
L136F |
probably benign |
Het |
| Vmn2r38 |
A |
G |
7: 9,097,611 (GRCm39) |
S161P |
probably damaging |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,606 (GRCm39) |
I590T |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,217,248 (GRCm39) |
E323G |
probably damaging |
Het |
| Xpo6 |
G |
T |
7: 125,708,016 (GRCm39) |
Q851K |
probably damaging |
Het |
| Zfp386 |
T |
C |
12: 116,023,526 (GRCm39) |
S380P |
probably damaging |
Het |
| Zfp536 |
A |
G |
7: 37,173,281 (GRCm39) |
C274R |
unknown |
Het |
| Zfp64 |
A |
G |
2: 168,768,088 (GRCm39) |
I508T |
probably benign |
Het |
|
| Other mutations in Wdhd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Wdhd1
|
APN |
14 |
47,488,239 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01789:Wdhd1
|
APN |
14 |
47,512,274 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01981:Wdhd1
|
APN |
14 |
47,498,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02034:Wdhd1
|
APN |
14 |
47,498,808 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02932:Wdhd1
|
APN |
14 |
47,509,591 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02966:Wdhd1
|
APN |
14 |
47,479,101 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03355:Wdhd1
|
APN |
14 |
47,481,346 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0165:Wdhd1
|
UTSW |
14 |
47,504,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0414:Wdhd1
|
UTSW |
14 |
47,514,045 (GRCm39) |
missense |
probably benign |
|
|
R0603:Wdhd1
|
UTSW |
14 |
47,501,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Wdhd1
|
UTSW |
14 |
47,484,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1539:Wdhd1
|
UTSW |
14 |
47,482,507 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1541:Wdhd1
|
UTSW |
14 |
47,505,649 (GRCm39) |
nonsense |
probably null |
|
|
R1588:Wdhd1
|
UTSW |
14 |
47,493,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Wdhd1
|
UTSW |
14 |
47,493,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Wdhd1
|
UTSW |
14 |
47,496,034 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1952:Wdhd1
|
UTSW |
14 |
47,507,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2320:Wdhd1
|
UTSW |
14 |
47,511,485 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2421:Wdhd1
|
UTSW |
14 |
47,496,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3731:Wdhd1
|
UTSW |
14 |
47,485,349 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3818:Wdhd1
|
UTSW |
14 |
47,481,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3836:Wdhd1
|
UTSW |
14 |
47,482,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4789:Wdhd1
|
UTSW |
14 |
47,506,149 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4963:Wdhd1
|
UTSW |
14 |
47,506,146 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4994:Wdhd1
|
UTSW |
14 |
47,506,111 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5225:Wdhd1
|
UTSW |
14 |
47,488,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5347:Wdhd1
|
UTSW |
14 |
47,506,181 (GRCm39) |
nonsense |
probably null |
|
|
R5377:Wdhd1
|
UTSW |
14 |
47,509,678 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6038:Wdhd1
|
UTSW |
14 |
47,501,037 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6038:Wdhd1
|
UTSW |
14 |
47,501,037 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6046:Wdhd1
|
UTSW |
14 |
47,510,667 (GRCm39) |
nonsense |
probably null |
|
|
R6289:Wdhd1
|
UTSW |
14 |
47,495,953 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6298:Wdhd1
|
UTSW |
14 |
47,510,579 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6345:Wdhd1
|
UTSW |
14 |
47,489,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6405:Wdhd1
|
UTSW |
14 |
47,481,324 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6500:Wdhd1
|
UTSW |
14 |
47,488,217 (GRCm39) |
splice site |
probably null |
|
|
R6564:Wdhd1
|
UTSW |
14 |
47,485,499 (GRCm39) |
missense |
probably benign |
|
|
R6897:Wdhd1
|
UTSW |
14 |
47,485,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7262:Wdhd1
|
UTSW |
14 |
47,489,430 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7444:Wdhd1
|
UTSW |
14 |
47,489,405 (GRCm39) |
nonsense |
probably null |
|
|
R7496:Wdhd1
|
UTSW |
14 |
47,511,481 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7503:Wdhd1
|
UTSW |
14 |
47,488,248 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8317:Wdhd1
|
UTSW |
14 |
47,500,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8323:Wdhd1
|
UTSW |
14 |
47,512,252 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8331:Wdhd1
|
UTSW |
14 |
47,509,702 (GRCm39) |
splice site |
probably null |
|
|
R8338:Wdhd1
|
UTSW |
14 |
47,506,120 (GRCm39) |
missense |
probably benign |
|
|
R8363:Wdhd1
|
UTSW |
14 |
47,513,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Wdhd1
|
UTSW |
14 |
47,504,470 (GRCm39) |
missense |
probably benign |
|
|
R8946:Wdhd1
|
UTSW |
14 |
47,482,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9045:Wdhd1
|
UTSW |
14 |
47,511,409 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9428:Wdhd1
|
UTSW |
14 |
47,489,427 (GRCm39) |
nonsense |
probably null |
|
|
R9444:Wdhd1
|
UTSW |
14 |
47,488,324 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9491:Wdhd1
|
UTSW |
14 |
47,505,616 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGCCTCCGTCTAAGTCC -3'
(R):5'- AACCCCAGTATCCTGCAATCTTTG -3'
Sequencing Primer
(F):5'- TCCACGATAACATGTAGTGACCATG -3'
(R):5'- CAATCTTTGCAAGTTGAAATTTCCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation